7-111808856-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP5_Moderate
The NM_001363540.2(DOCK4):c.3131T>C(p.Met1044Thr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Likely pathogenic (★).
Frequency
Consequence
NM_001363540.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DOCK4 | NM_001363540.2 | c.3131T>C | p.Met1044Thr | missense_variant | Exon 30 of 53 | ENST00000428084.6 | NP_001350469.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
Neurodevelopmental disorder Pathogenic:1
This variant was identified as de novo (maternity and paternity confirmed) Criteria applied: PM2_SUP, PS3_MOD, PP3, PS2_MOD, PM1_SUP This variant was identified together with the variant NM_014705.4:c.758C>T, p.Pro253Leu -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.